This review examines new and established methods of genetic testing for inherited eye diseases.

The authors discuss the definition and necessity of genetic testing, clinical investigation as a proxy for genetic testing, genetic testing in the context of heterogenous eye diseases and polygenic eye disorders, and the challenges and ethical issues created by the latest advancements.

They write that in the more 10 years since completion of the Human Genome Project, advancements in the understanding of gene function and its role in inherited disease and ophthalmic genetics have been extraordinary. New opportunities presented by high-throughput diagnostic technologies may improve screening strategies and reduce blindness.

They conclude that understanding the complex issues surrounding the use of novel wide-scale sequencing in clinical practice will be essential and its benefit will not be confined to just ophthalmology.